D201V (p.Asp201Val) variant of AGXT (P21549)
D201V (p.Asp201Val) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
D201V (p.Asp201Val) variant details
- p.Asp201Val
- rs1575709864
- ClinGen CA351316767
- ClinVar RCV003468703
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Likely pathogenic (in HP1)
- UniProt: Likely pathogenic (in HP1)
- Structural context available
- AGXT complementation assay *2 b: score 0.131
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)